RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes

Brain and Development

Volumn 27, Issue 2, 2005, Pages 114-117

  Nakamura, Miki ^a   Yamagata, Takanori ^a   Mori, Masato ^a   Momoi, Mariko Y ^a  

^a JICHI MEDICAL UNIVERSITY   (Japan)

Author keywords

Cataplexy; Coffin Lowry syndrome; Drop episodes; RSK2 gene

Indexed keywords

CARBAMAZEPINE; CLONAZEPAM; PHENOBARBITAL; PROTEIN SERINE THREONINE KINASE; VALPROIC ACID;

ADULT; AMINO TERMINAL SEQUENCE; CASE REPORT; COFFIN LOWRY SYNDROME; CONFERENCE PAPER; DROP ATTACK; ELECTROPHYSIOLOGY; FEMALE; GENE MUTATION; HUMAN; MUSCLE TONE; MUTATIONAL ANALYSIS; PROTEIN DOMAIN; TREATMENT OUTCOME; X CHROMOSOME INACTIVATION;

ADULT; BASE SEQUENCE; COFFIN-LOWRY SYNDROME; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HUMANS; MUTATION; POLYMERASE CHAIN REACTION; RIBOSOMAL PROTEIN S6 KINASES, 90-KDA; SYNCOPE;

EID: 12744259706     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2004.02.015     Document Type: Conference Paper

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